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B3GALNT2 Gene Congenital muscular dystrophy and hypoglycosylation of α-dystroglycan NGS Genetic Test

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B3GALNT2 Gene Congenital muscular dystrophy and hypoglycosylation of α-dystroglycan NGS Genetic Test

B3GALNT2 Gene Congenital muscular dystrophy and hypoglycosylation of α-dystroglycan NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to confirm the presence of mutations in the B3GALNT2 gene, which causes congenital muscular dystrophy with hypoglycosylation of α-dystroglycan. It aids in accurate diagnosis, guiding clinical management, and informing family planning through genetic counseling.

Test Code
1571
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with B3GALNT2 gene congenital muscular dystrophy and hypoglycosylation of α-dystroglycan disease.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure; sample collected via venipuncture or alternative methods as specified.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bleeding; store sample at ambient room temperature.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and pedigree analysis; provide clinical history.
2
During the Test:Blood sample collection via venipuncture or other approved methods.
3
After the Test:Sample processed using NGS technology; results available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to confirm the presence of mutations in the B3GALNT2 gene, which causes congenital muscular dystrophy with hypoglycosylation of α-dystroglycan. It aids in accurate diagnosis, guiding clinical management, and informing family planning through genetic counseling.

How to Prepare

  • Ensure patient identification and consent
  • Collect blood or DNA sample as per protocol
  • Label sample correctly with patient details
  • Transport sample to lab under appropriate conditions

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Understanding Your Results

Results indicate the presence or absence of mutations in the B3GALNT2 gene. Positive findings confirm a diagnosis of congenital muscular dystrophy due to hypoglycosylation of α-dystroglycan, while negative results may suggest other genetic or non-genetic causes.
📊

Pathogenic mutation detected

Confirms diagnosis of B3GALNT2-related congenital muscular dystrophy; recommend genetic counseling and management.

📊

No pathogenic mutation detected

Negative for B3GALNT2 gene mutations; consider other diagnostic tests if symptoms persist.

⚠️ When to Consult a Doctor:

Consult a doctor if you or a loved one experiences symptoms such as muscle weakness, poor muscle tone, or developmental delays, or if there is a family history of congenital muscular dystrophy.

Risks & Considerations

  • ●Minor bruising at the needle site
  • ●Slight risk of infection
  • ●Rare chance of dizziness or fainting

Frequently Asked Questions

What is the B3GALNT2 Gene NGS Genetic Test?
This test uses next-generation sequencing to detect mutations in the B3GALNT2 gene, which causes congenital muscular dystrophy with hypoglycosylation of ?-dystroglycan.
Who should consider this test?
Individuals with symptoms like muscle weakness, poor muscle tone, or a family history of congenital muscular dystrophy should consider this test.
How is the sample collected?
Sample is collected via blood draw, extracted DNA, or one drop of blood on an FTA card, with home collection available.
What is the cost of the test?
The test costs INR 20000, and free home sample collection is offered across India for online bookings.
Is the test covered by insurance?
It is typically covered by insurance, but you should check with your provider to confirm coverage.
How long does it take to get results?
Results are usually available within 3 to 4 weeks after sample collection.
What do positive results mean?
Positive results indicate mutations in the B3GALNT2 gene, confirming a diagnosis of congenital muscular dystrophy.
What if the test is negative?
Negative results mean no mutations were detected in the B3GALNT2 gene; further evaluation may be needed if symptoms persist.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to understand the test implications and draw a family pedigree chart.
What are the risks of the test?
Risks are minimal and include minor bruising at the needle site or slight infection risk.
Can this test be done for children?
Yes, the test is suitable for all age groups, including children, especially if symptoms are present.
How accurate is the NGS technology used?
NGS is highly accurate for detecting genetic mutations, providing reliable results for diagnosis.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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